Fabry's disease causes: Difference between revisions
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{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} {{AE}} | {{CMG}} {{AE}} {{GhazalS}} | ||
==Overview== | ==Overview== | ||
Revision as of 10:26, 14 July 2022
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Fabry's disease Microchapters |
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Diagnosis |
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Fabry's disease causes On the Web |
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Risk calculators and risk factors for Fabry's disease causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
Overview
- Fabry's disease is caused by a mutation in the GLA gene.
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Fabry's disease Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Fabry's disease causes On the Web |
|
American Roentgen Ray Society Images of Fabry's disease causes |
|
Risk calculators and risk factors for Fabry's disease causes |
Causes
- Fabry's disease is a genetically X - linked inherited disorder due to a mutation in the GLA gene which is responsible for coding lysosomal enzyme alpha galactosidase A.
- The deficiency of the enzyme leads to build of Gb3 (Globotriaosylhexidase) in the lysosomes.
- These accumulations in various tissues leads to classic manifestations of fabry's disease that include skin, cardiac, renal and neurological involvement.[1]